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ACATGGTTTTCGAGTCGGTGGTCGT[A/G]GACGTGTTGAACCGGTTCTTGGGGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605978 | ||||||||||||||||||||
Literature Links: |
VPS13A PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
VPS13A - vacuolar protein sorting 13 homolog A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001018037.1 | 284 | Silent Mutation | GTA,GTG | V,V 8 | NP_001018047.1 | |
NM_001018038.2 | 284 | Silent Mutation | GTA,GTG | V,V 8 | NP_001018048.1 | |
NM_015186.3 | 284 | Silent Mutation | GTA,GTG | V,V 8 | NP_056001.1 | |
NM_033305.2 | 284 | Silent Mutation | GTA,GTG | V,V 8 | NP_150648.2 |
VPS13A-AS1 - VPS13A antisense RNA 1 | ||||||
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There are no transcripts associated with this gene. |